Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

Abstract Background Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, a...

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Bibliographic Details
Main Authors: Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
TBCD
FGG
Exome sequencing
Cerebral atrophy
Hypofibrinogenemia
Blended phenotypes
Online Access:http://link.springer.com/article/10.1186/s12881-018-0597-6

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http://link.springer.com/article/10.1186/s12881-018-0597-6

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